3 Ontology Annotations
GO Term | Gene Name |
---|---|
GO:0004842 | IPR003977 |
GO:0005739 | IPR003977 |
GO:0005829 | IPR003977 |
Type: | Family | Name: | E3 ubiquitin-protein ligase parkin |
Description: | Parkinson's disease (PD) is a common neurodegenerative disorder with complex clinical features and a poorly understood aetiology. PD is accompanied by aprogressive loss of dopamine-containing neurons in the substantia nigra, with patients suffering from rigidity, slowness of movement, tremour anddisturbances of balance. Autosomal recessive juvenile parkinsonism (AR-JP) is a rare form of familial PD mapped to chromosome 6 and linked strongly toa pair of markers. One of these markers has been cloned, yielding a sequence that encodes a protein, 465 amino acids long []. The protein sequence,named parkin, shows moderate similarity with ubiquitin at the N terminus and a ring-finger domain at the C terminus.In normal individuals, parkin binds to the E2 ubiquitin-conjugating human enzyme 8 (UbcH8) through the C-terminal ring-finger domain. In the presenceof UbcH8, parkin has ubiquitin-protein ligase activity and even catalyses its own ubiquitination. Furthermore, parkin appears to target the synaptic vesicle-associated protein CDCrel-1 for ubiquitination and thus promotes itsdegradation. The mutated forms of parkin implicated in AR-JP appear to be defective in terms of UbcH8 binding, E3 ubiquitin protein-ligase activity,self-ubiquitination, and CDCrel-1 binding and ubiquitination []. | Short Name: | Parkin |
GO Term | Gene Name |
---|---|
GO:0004842 | IPR003977 |
GO:0005739 | IPR003977 |
GO:0005829 | IPR003977 |